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- Title
A Clinical Presentation of IRAK-4 Deficiency.
- Authors
Ghandil, Pegah; Picard, Capucine; Puel, Anne
- Abstract
Objective: We report the clinical and immunological features of a patient, with a history of multiple, Pseudomonas aeruginosa (PA) positive liver abscesses, because of underlying interleukin receptor associated kinase-4 (IRAK-4) immunodeficiency. Material and Methods: We analyzed the production of interleukin 6 (IL-6) and interleukin 10 (IL-10) after stimulation with various Toll-like receptor agonists (TLR) by patient's whole blood leukocytes and adherent monocytes. The IRAK-4 genes were sequenced by standard techniques. Results: The patient's monocytic cells were profoundly deficient in IL-6 and IL-10 cytokine response to a range of TLRs agonist. Meanwhile, we identified two mutations including M1V and 1188+520A>G after sequencing of the IRAK-4 gene, as a compound heterozygote. Conclusion: IRAK-4 is essential in signaling path of the innate immune responses. Its deficiency is associated with severe and recurrent gram positive, and gram negative bacterial infections, which runs many times in the absence of clinical and laboratory inflammatory response.
- Subjects
IMMUNODEFICIENCY; INTERLEUKIN-6
- Publication
Iranian Journal of Allergy, Asthma & Immunology, 2018, Vol 17, p65
- ISSN
1735-1502
- Publication type
Abstract